DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Epidermolysis bullosa, lethal acantholytic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 GeneticVariation disease BEFREE Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK). 29607617 2019
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 Biomarker disease GENOMICS_ENGLAND Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients. 30993396 2019
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 Biomarker disease GENOMICS_ENGLAND Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin. 25516398 2015
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 Biomarker disease GENOMICS_ENGLAND Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians. 23500315 2013
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 Biomarker disease GENOMICS_ENGLAND A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. 20940358 2011
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 GeneticVariation disease BEFREE One of these phenotypes, lethal acantholytic epidermolysis bullosa (LAEB), is characterized by extensive postnatal shedding of epidermis leading to early demise and is caused by recessive mutations in the gene DSP resulting in truncation of the desmoplakin C-terminus. 20302578 2010
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 GeneticVariation disease BEFREE Lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessive disorder caused by mutations in the gene encoding the desmosomal protein, desmoplakin (DSP). 19945626 2010
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 GermlineCausalMutation disease ORPHANET As the clinical diagnosis was LAEB, DSP mutation analysis was performed. 20302578 2010
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 Biomarker disease BEFREE Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 16175511 2005
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 GermlineCausalMutation disease ORPHANET The new dramatic phenotype, which we named "lethal acantholytic epidermolysis bullosa," underscores the paramount role of DP in epidermal integrity. 16175511 2005
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 Biomarker disease CTD_human
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 GeneticVariation disease CLINVAR
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 CausalMutation disease CLINVAR
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 Biomarker disease GENOMICS_ENGLAND